Symptoms of HHT

This last week my famiy and I had a terrible head cold. When you have little ones, it is harder even, they are sick, then you are sick, you are all miserable together and it is not fun. As the momma you cannot be sick! you have to get up and take care of everyone else, what a job! The kids and I started feeling better by about Saturday, with the hubby feeling the worst on Father's Day, poor guy! Being sick, even with just a horrible head cold really made me think of HHT and also other illnesses out there that cause anyone to have to have health issues everyday, and how difficult that really is.
With Father's Day comes an array of emotions for me. I lost my dad almost 7 years ago. I think of all the years that my father could still have on this earth with us if he had been able to have his symptoms treated. He actually went to a doctor and had a brain CT about 7 years previous to his death, I don't know the reason exactly, maybe it was because of headaches, or something else. I didn't know that he had a CT until after he died. He was a very private man about that stuff and we hadn't lived under the same roof as my parents had divorced when I was young. The doctors said that they saw a spot on his brain but that it was nothing to be worried about. He should've been referred to a specialist, maybe he was, I don't know. But an HHT specialist would have saw that and said, "Let's look into this further."
We cannot change the past or dwell in it. Now we know what we know. That is what I know, that I have to look to the future, live today to the fullest! That is why getting the info out to others about HHT is so detrimental! I feel that if more doctors knew of this disorder, more of the general public would be aware of it also.
My sister and brother currently undergo all their ct's, mri's, lung procedures, at a great HHT center, at OHSU, they are so awesome. I cannot tell you how thankful I am that they go through all this with their doctors, the best! They really are the best, I thank God that my family lives close, that it is not far, we are blessed to have one here so close. With more funding and research, there can be more HHT centers, where families could go to get all their care done. I was reading on the HHT website and was so struck by this one ladies comment, it was like on a board where you post questions and stuff, I am telling ya, the HHT website is so awesome. But it was so sad to hear this lady, she had HHT but couldn't afford to always go to the HHT center cause she lives so far away from one. That is heartbreaking and wrong. I hope that in the near future there will be more HHT centers to treat people and that the location will not be why they cannot make it to one, because the preventitive care for HHT is what prolongs a patients life and quality of life.

I took some info from the HHT website to explain in better terms what some of the symptoms and treatments are of HHT:

Many individuals who initially request a genetic test for HHT actually do not need this expensive test to determine whether they have HHT. In many cases a physician familiar with the sometimes-subtle external signs of HHT, and who takes a detailed family history, can make the diagnosis during a clinic visit. The following Diagnostic Criteria for HHT have been published by an international group of HHT experts. The diagnosis of HHT is considered definite if three or more of the following four criteria are present, or suspected if two of the following four criteria are present:

Nosebleeds- spontaneous and recurrent
Telangiectases- multiple, at characteristic sites, including lips, oral cavity, fingers and nose Internal telangiectases or AVM- lung, brain, GI, liver or spinal
Family history-parent, sibling or child with HHT according to these criteria

The location of telangiectases and /or AVMs in the body determines what problem(s) someone with HHT might have. In most locations, and at any size, a telangiectasia or AVM has greater tendency to rupture and bleed than a normal blood vessel. In the nose, skin, GI tract (stomach and intestines), and brain the primary problem they can cause is bleeding. AVMs in the lungs or liver are less likely to rupture and bleed, but can cause other problems that are less obvious to doctors and patients who lack an in depth understanding of HHT. No one with HHT has all of the signs and symptoms listed below. My family has had the lung and brain avm's and they have the skin teangiectases, those are the things that I will talk about, as that is the experience that I have had.

Symptoms of HHT vary greatly, even within a family. A parent may have horrible nosebleeds, but no AVM in an internal organ. Yet, their child may have a nosebleed only rarely, but have AVMs in one or more internal organs. We can not predict how likely someone is to have one of the hidden, internal AVMs based on how many nosebleeds or skin telangiectases they have. In other words, the person with HHT who has minor/mild nosebleeds is as likely to have an AVM in their lung, as the person with HHT who gets severe daily nosebleeds.

Telangiectases in the nose, along with the nosebleeds they cause, are the most common symptom of HHT. About 95% of people with HHT have recurring nosebleeds by the time they reach middle age. The average age at which nosebleeds begin is 12, but they can begin as early as infancy, or as late as adulthood. The nosebleeds can be as infrequent as a couple per year, or can occur daily. When a nosebleed occurs it can last only seconds, or occasionally hours. The amount of blood lost may be a few drops, or enough to cause anemia (low blood count). As with most things that are variable in human beings (i.e. height and shoe size), the majority of people with HHT are in between the two extremes in terms of nosebleed frequency and severity. I remember always seeing kleenex in the garbage with blood all over it, my sister, brother and father always got really bad nosebleeds. My brother and sisters have seemed to get better over the years (they are in their 20's), they had them worst when they were young, while my dad had them really bad into his adult life.

Telangiectases in the skin of the hands, face and mouth are also found in about 95% of all people with HHT. These often do not become apparent until the 30s or 40s, however. They appear as small red to purplish spots. In some individuals with HHT they become quite prominent by late adulthood, in others they are subtle. The telangiectases on the skin and in the mouth can bleed also, but they are less likely to bleed than those in the nose. Both telangiectases of the skin and nosebleeds have a tendency to become more numerous with increasing age. But with this too, there are many variations and exceptions!

Lung and brain AVMs should be treated before they cause symptoms or problems in most cases. This is why testing or screening for them is recommended in all individuals with HHT, regardless of their specific symptoms. Lung AVMs can almost always be treated completely and permanently using an outpatient procedure called embolization. An Interventional Radiologist inserts a small tube (catheter) in a large vein in the groin. The tube is then passed through the blood vessel system to the AVM in the lung. A devise (a “coil” or occasionally a “balloon”) is placed in the artery leading to the AVM to stop blood flow through the AVM. The procedure usually takes 1-3 hours and requires only a few hours of recuperation.

Brain AVMs are treated in different ways depending on the size, structure and location in the brain of the abnormal blood vessels. Surgery, embolization and stereotactic radiosurgery can all be used, separately or in combination, to successfully treat brain AVMs.